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Search Results to Stephen Scherer

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One or more keywords matched the following items that are connected to Scherer, Stephen

Item TypeName
Concept Societies, Scientific
Concept Human Genome Project
Concept Tissue Banks
Concept Genome, Human
Concept Genome, Bacterial
Concept Genome-Wide Association Study
Concept Genome, Archaeal
Concept Genome
Concept Genome, Fungal
Academic Article The mouse genome sequence--the end of the tail, or just the beginning?
Academic Article The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.
Academic Article Recent segmental and gene duplications in the mouse genome.
Academic Article Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements.
Academic Article Molecular basis for expression of common and rare fragile sites.
Academic Article Characterization of the segmental duplication LCR7-20 in the human genome.
Academic Article Detection of large-scale variation in the human genome.
Academic Article Human chromosome 7 circa 2004: a model for structural and functional studies of the human genome.
Academic Article Remarkable sequence signatures in archaeal genomes.
Academic Article Structural variation in the human genome.
Academic Article Structural variants: changing the landscape of chromosomes and design of disease studies.
Academic Article Copy number variation: new insights in genome diversity.
Academic Article Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS).
Academic Article Strategies for the detection of copy number and other structural variants in the human genome.
Academic Article Methods for identifying and mapping recent segmental and gene duplications in eukaryotic genomes.
Academic Article Comparative analysis of the paired immunoglobulin-like receptor (PILR) locus in six mammalian genomes: duplication, conversion, and the birth of new genes.
Academic Article Genome assembly comparison identifies structural variants in the human genome.
Academic Article Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays.
Academic Article Accurate and reliable high-throughput detection of copy number variation in the human genome.
Academic Article Global variation in copy number in the human genome.
Academic Article Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome.
Academic Article Human Genome Variation 2006: emerging views on structural variation and large-scale SNP analysis.
Academic Article Relative impact of nucleotide and copy number variation on gene expression phenotypes.
Academic Article Challenges and standards in integrating surveys of structural variation.
Academic Article Germ-line DNA copy number variation frequencies in a large North American population.
Academic Article The diploid genome sequence of an individual human.
Academic Article Copy-number variation in control population cohorts.
Academic Article SNPs meet CNVs in genome-wide association studies: HGV2007 meeting report.
Academic Article Comparative analysis of human chromosome 7q21 and mouse proximal chromosome 6 reveals a placental-specific imprinted gene, TFPI2/Tfpi2, which requires EHMT2 and EED for allelic-silencing.
Academic Article A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints.
Academic Article Dynamic variation in allele-specific gene expression of Paraoxonase-1 in murine and human tissues.
Academic Article Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome.
Academic Article Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome.
Academic Article Contemplating effects of genomic structural variation.
Academic Article Characterization of the differentially methylated region of the Impact gene that exhibits Glires-specific imprinting.
Academic Article Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma.
Academic Article Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting.
Academic Article The cycle of genome-directed medicine.
Academic Article Race and ancestry in biomedical research: exploring the challenges.
Academic Article Genomic variation in a global village: report of the 10th annual Human Genome Variation Meeting 2008.
Academic Article Whole genome scanning: resolving clinical diagnosis and management amidst complex data.
Academic Article Identifying concerted evolution and gene conversion in mammalian gene pairs lasting over 100 million years.
Academic Article Prepublication data sharing.
Academic Article Origins and functional impact of copy number variation in the human genome.
Academic Article EBV transformation and cell culturing destabilizes DNA methylation in human lymphoblastoid cell lines.
Academic Article The clinical context of copy number variation in the human genome.
Academic Article Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan.
Academic Article Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.
Academic Article Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing.
Academic Article Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease.
Academic Article Towards a comprehensive structural variation map of an individual human genome.
Academic Article HGV2009 meeting: bigger and better studies provide more answers and more questions.
Academic Article Functional impact of global rare copy number variation in autism spectrum disorders.
Academic Article A genome-wide scan for common alleles affecting risk for autism.
Academic Article Identifying signatures of natural selection in Tibetan and Andean populations using dense genome scan data.
Academic Article Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability.
Academic Article A genotype resource for postmortem brain samples from the Autism Tissue Program.
Academic Article A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes.
Academic Article Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism.
Academic Article Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants.
Academic Article A scan statistic to extract causal gene clusters from case-control genome-wide rare CNV data.
Academic Article Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Academic Article A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.
Academic Article Genome-wide association analysis of copy number variation in recurrent depressive disorder.
Academic Article Detection and characterization of copy number variation in autism spectrum disorder.
Academic Article Genome-wide survey of large rare copy number variants in Alzheimer's disease among Caribbean hispanics.
Academic Article Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3.
Academic Article Genetic architecture in autism spectrum disorder.
Academic Article Genome-wide copy number analysis uncovers a new HSCR gene: NRG3.
Academic Article Subgroup-specific structural variation across 1,000 medulloblastoma genomes.
Academic Article Individual common variants exert weak effects on the risk for autism spectrum disorders.
Academic Article Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsy.
Academic Article Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways.
Academic Article Genomics is the medium for 21st century biology.
Academic Article Mechanisms of formation of structural variation in a fully sequenced human genome.
Academic Article Molecular characteristics of a pancreatic adenocarcinoma associated with Shwachman-Diamond syndrome.
Academic Article HGV2012: leveraging next-generation technology and large datasets to advance disease research.
Academic Article Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism.
Academic Article Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays.
Academic Article Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
Academic Article Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.
Academic Article A human chromosome 7-specific genomic DNA library in yeast artificial chromosomes.
Academic Article The Database of Genomic Variants: a curated collection of structural variation in the human genome.
Academic Article Performance of high-throughput sequencing for the discovery of genetic variation across the complete size spectrum.
Academic Article Neuregulin 1-alpha regulates phosphorylation, acetylation, and alternative splicing in lymphoblastoid cells.
Academic Article A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus.
Academic Article A genome-wide association study of anorexia nervosa.
Academic Article The population genomic landscape of human genetic structure, admixture history and local adaptation in Peninsular Malaysia.
Academic Article Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
Academic Article Biological overlap of attention-deficit/hyperactivity disorder and autism spectrum disorder: evidence from copy number variants.
Academic Article Novel population specific autosomal copy number variation and its functional analysis amongst Negritos from Peninsular Malaysia.
Academic Article Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study.
Academic Article Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
Academic Article RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
Academic Article Whole-genome sequencing of quartet families with autism spectrum disorder.
Academic Article A copy number variation map of the human genome.
Academic Article Integrated genomics identifies convergence of ankylosing spondylitis with global immune mediated disease pathways.
Academic Article Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.
Academic Article Phenotypic Association Analyses With Copy Number Variation in Recurrent Depressive Disorder.
Academic Article Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome.
Academic Article Psychiatric gene discoveries shape evidence on ADHD's biology.
Academic Article Genome-wide rare copy number variations contribute to genetic risk for transposition of the great arteries.
Academic Article Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay.
Academic Article Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Academic Article Cloning of a DSS1 pseudogene (DSS1P1) and mapping to human Chromosome band 5ql4.
Academic Article Genome-wide characteristics of de novo mutations in autism.
Academic Article Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects.
Academic Article Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications.
Academic Article De Novo Genome and Transcriptome Assembly of the Canadian Beaver (Castor canadensis).
Academic Article Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
Academic Article Whole-genome sequencing suggests mechanisms for 22q11.2 deletion-associated Parkinson's disease.
Academic Article CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.
Academic Article Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.
Academic Article Copy Number Variation in Tourette Syndrome.
Academic Article Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.
Academic Article Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Academic Article Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.
Academic Article Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray.
Academic Article Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia.
Academic Article Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study.
Academic Article A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data.
Academic Article Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots.
Academic Article Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.
Academic Article Organization and transcriptional analysis of the Listeria phage A511 late gene region comprising the major capsid and tail sheath protein genes cps and tsh.
Academic Article Assignment of the human homolog of mouse Dlx3 to chromosome 17q21.3-q22 by analysis of somatic cell hybrids and fluorescence in situ hybridization.
Academic Article Mapping the midkine family of developmentally regulated signaling molecules.
Academic Article Refined localization and yeast artificial chromosome (YAC) contig--mapping of genes and DNA segments in the 7q21-q32 region.
Academic Article A YAC-based contig of 1.5 Mb spanning the human multidrug resistance gene region and delineating the amplification unit in three human multidrug-resistant cell lines.
Academic Article Localization of two metabotropic glutamate receptor genes, GRM3 and GRM8, to human chromosome 7q.
Academic Article Fine mapping of the human and mouse genes for the type I procollagen COOH-terminal proteinase enhancer protein.
Academic Article Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31.
Academic Article Structure and mapping of the human lanosterol 14alpha-demethylase gene (CYP51) encoding the cytochrome P450 involved in cholesterol biosynthesis; comparison of exon/intron organization with other mammalian and fungal CYP genes.
Academic Article Genomic organization and transcript analysis of ICAp69, a target antigen in diabetic autoimmunity.
Academic Article Cloning of a DSS1 pseudogene (DSS1P1) and mapping to human chromosome band 5q14.
Academic Article Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome.
Academic Article Interleukin-1beta-converting enzyme (ICE) and related cell death genes ICErel-II and ICErel-III map to the same PAC clone at band 11q22.2-22.3.
Academic Article Fluorescent in situ mapping of the murine deleted in split hand/split foot 1 (dss1) gene to chromosome 6.
Academic Article Resources for human genetics on the World Wide Web.
Academic Article Genome analysis.
Academic Article Structural organization and chromosomal localization of the human Na,K-ATPase beta 3 subunit gene and pseudogene.
Academic Article A physical map of chromosome 7 of Candida albicans.
Academic Article Genomic structure of the human congenital chloride diarrhea (CLD) gene.
Academic Article Large-scale sequencing of two regions in human chromosome 7q22: analysis of 650 kb of genomic sequence around the EPO and CUTL1 loci reveals 17 genes.
Academic Article Clustering of human chromosome fragments on the mouse genome by chromosome-mediated gene transfer.
Academic Article Comprehensive evaluation of isoprenoid biosynthesis regulation in Saccharomyces cerevisiae utilizing the Genome Reporter Matrix.
Academic Article Generation and chromosome mapping of expressed sequence tags (ESTs) from a human infant thymus.
Academic Article Occurrence and structure-function relationship of pentameric short sequence repeats in microbial genomes.
Academic Article Localization of the human SP3 gene to chromosome 7p14-p15.2. The lack of expression in multiple sclerosis does not reflect abnormal gene organization.
Academic Article Small GTPase Rac1: structure, localization, and expression of the human gene.
Academic Article Prevalence of small inversions in yeast gene order evolution.
Academic Article Experimental annotation of the human genome using microarray technology.
Academic Article A physical map of the human genome.
Academic Article A high-resolution map of human chromosome 12.
Academic Article Genomic evidence for a complete sexual cycle in Candida albicans.
Academic Article The human contactin-associated protein-like 2 gene (CNTNAP2) spans over 2 Mb of DNA at chromosome 7q35.
Academic Article Mapping and genome sequence analysis of chromosome 5 regions involved in bladder cancer progression.
Academic Article Discovery of the human genome sequence in the public and private databases.
Academic Article Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome.
Academic Article Genomics and pediatric research.
Academic Article Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence.
Academic Article Paternally inherited cis-regulatory structural variants are associated with autism.
Academic Article A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Academic Article Sequencing of isolated sperm cells for direct haplotyping of a human genome.
Academic Article A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder.
Academic Article Chorea-acanthocytosis: Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing.
Academic Article A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees.
Academic Article Analysis of shared heritability in common disorders of the brain.
Academic Article Genome-wide copy number variation analysis identifies novel candidate loci associated with pediatric obesity.
Academic Article Rearrangement bursts generate canonical gene fusions in bone and soft tissue tumors.
Academic Article Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot.
Academic Article De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome.
Academic Article Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders.
Academic Article A Third Linear Association Between Olduvai (DUF1220) Copy Number and Severity of the Classic Symptoms of Inherited Autism.
Academic Article Intratumoral Genetic and Functional Heterogeneity in Pediatric Glioblastoma.
Academic Article Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.
Academic Article Genome-wide analysis identifies rare copy number variations associated with inflammatory bowel disease.
Academic Article Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa.
Academic Article Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants.
Academic Article Genome-wide copy number variant data for inflammatory bowel disease in a caucasian population.
Academic Article Impact of DNA source on genetic variant detection from human whole-genome sequencing data.
Academic Article Analysis of five deep-sequenced trio-genomes of the Peninsular Malaysia Orang Asli and North Borneo populations.
Academic Article Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders.
Academic Article Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Academic Article The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease.
Academic Article Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies.
Academic Article ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data.
Academic Article Genome-wide association study of emotional empathy in children.
Academic Article Ancestry and frequency of genetic variants in the general population are confounders in the characterization of germline variants linked to cancer.
Academic Article Genome-wide detection of tandem DNA repeats that are expanded in autism.
Academic Article Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity.
Academic Article Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences.

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